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目的应用脐带血血红蛋白(Hb)电泳筛查新生儿α-地中海贫血(简称α-地贫),为玉林市α-地贫的防治提供依据。方法采用全自动电泳仪对2684名新生儿脐带血进行血红蛋白(Hb)电泳,电泳后对Hb区带进行扫描定量分析,根据巴特血红蛋白(HbBart’s)含量判定α-地贫类型,并将筛查阳性的病例进行基因诊断。结果 2684份脐带血中,HbBart’s含量≥1%者265例,筛查阳性率为9.87%,其中HbBart’s含量在1%～3%者为61例,在3～20%者197例,在20%～40%者5例,>80%者2例。根据巴特血红蛋白(HbBart’s)含量推算出静止型α-地贫,标准型α-地贫,HbH病,巴氏胎儿水肿综合征的携带率分别为2.27%、7.34%、0.19%、和0.07%。除2例巴氏胎儿水肿综合征外,经基因分析诊断为α地贫的有249例。结论应用脐带血血红蛋白电泳筛查新生儿α-地中海贫血方便、快捷、有效,对指导优生优育,提高出生人口质素质有重要意义,可作为新生儿α-地贫的常规筛查方法 。
Objective To screen neonatal α-thalassemia (Hypophthalmitis) by cord blood hemoglobin (Hb) electrophoresis, and provide evidence for the prevention and treatment of α-thalassemia in Yulin. Methods 2684 neonates were subjected to hemoglobin (Hb) electrophoresis using a fully automated electrophoresis system. The Hb band was scanned and quantitated by electrophoresis. The a-thalassemia type was determined according to the content of HbBart’s, and the screening positive Of cases for genetic diagnosis. Results Among 2684 cord blood samples, HbBart’s content ≥1% in 265 cases, screening positive rate was 9.87%, in which HbBart’s content was 1% ~ 3% in 61 cases, in 3 ~ 20% in 197 cases, in 20% ~ 40% in 5 cases,> 80% in 2 cases. According to the content of HbBart’s, the carrying rates of resting α-thalassemia, standard α-thalassemia, HbH disease and pasteurian fetal edema syndrome were 2.27%, 7.34%, 0.19% and 0.07%, respectively. In addition to 2 cases of Papulosis fetal edema syndrome, the gene diagnosis of α thalassemia in 249 cases. Conclusion The screening of neonatal alpha-thalassemia using cord blood hemoglobin electrophoresis is convenient, rapid and effective. It is of great significance to guide the prenatal and postnatal care and improve the quality of birth population. It can be used as a routine screening method for alpha-thalassemia of neonates.